Rs1799889

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs1799889
PheGenI	rs1799889
nextbio	rs1799889
hapmap	rs1799889
1000 genomes	rs1799889
hgdp	rs1799889
ensembl	rs1799889
gopubmed	rs1799889
geneview	rs1799889
scholar	rs1799889
google	rs1799889
pharmgkb	rs1799889
gwascentral	rs1799889
openSNP	rs1799889
23andMe	rs1799889
23andMe all	rs1799889
SNP Nexus
SNPshot	rs1799889
SNPdbe	rs1799889
MSV3d	rs1799889

Gene

SERPINE1

Chromosome

7

Orientation

plus

Position

100769710

Reference

GRCh37 37.1/131

Max Magnitude

Geno	Mag	Summary
(-;-)		MI risk
(-;G)		MI risk?
(G;G)		risk for aneurysms?

rs1799889 is an insertion/deletion polymorphism in the promoter region of the SERPINE1 gene, which is also known as plasminogen activator inhibitor type 1 (or PAI1 or PAI-1). [There are several entries in dbSNP covering this same position; the one here in SNPedia is the one with population frequency.] The most common allele has a run of 5 G's in the area around this SNP, and in the literature the allele is commonly called the 5G allele. A deletion of one nucleotide leads to the "4G" allele, i.e. rs1799889(-).

The 4G allele has been reported to increase risk for atherosclerosis and coronary artery disease [PMID 9484978]; on the other hand, the 5G allele may increase the risk of abdominal aortic aneurysm (AAA). [PMID 10805895]

In combination with the A2 allele of the ITGB3 gene, rs5918, the increased risk of myocardial infarction in a Finnish study population was 4 fold higher (odds ratio = 4.5, p=0.001), particularly in males (odds ratio = 6.4, p=0.0005) [PMID 9700201].

OMIM	173360
Desc	PLASMINOGEN ACTIVATOR INHIBITOR POLYMORPHISM
Variant	0002
Related	also

Neighbor	rs1799762
Distance	2

[PMID 20737565] Association of PAI-1 gene polymorphism with survival and chemotherapy-related vascular toxicity in testicular cancer

[PMID 21752301] Significant associations of PAI-1 genetic polymorphisms with osteonecrosis of the femoral head

[PMID 21761413] Genetic polymorphism of the plasminogen activator inhibitor-1 is associated with an increased risk of endometrial cancer[PMID 16424345] Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and association with coronary heart disease.

[PMID 17761618] 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19368854] No association between the promoter polymorphisms of PAI-1 gene and sporadic Alzheimer's disease in Chinese Han population.

[PMID 19387820] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.

[PMID 19526059] Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.

[PMID 21385363] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.

[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.

[PMID 22503724] Promoter polymorphisms of SERPINE1 are associated with the antidepressant response to depression in Alzheimer's disease.

GET Evidence
rs1799889
aa_change
aa_change_short
impact	pharmacogenetic
qualified_impact	Insufficiently evaluated pharmacogenetic
overall_frequency
summary

[PMID 23570848] tPA Alu (I/D) polymorphism associates with bacterial osteomyelitis